CINECA IRIS Institutional Research Information System
IRIS è la soluzione IT che facilita la raccolta e la gestione dei dati relativi alle attività e ai prodotti della ricerca. Fornisce a ricercatori, amministratori e valutatori gli strumenti per monitorare i risultati della ricerca, aumentarne la visibilità e allocare in modo efficace le risorse disponibili.
EnglishObjective: To apply next-generation sequencing (NGS) for the investigation of the genetic basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of patients. Methods: We applied an NGS-based platform namedMotorPlex to our diagnostic workflow to test muscle disease genes with a high sensitivity and specificity for small DNA variants. We analyzed 504 undiagnosed patients mostly referred as being affected by limb-girdle muscular dystrophy or congenital myopathy. Results: MotorPlex provided a complete molecular diagnosis in 218 cases (43.3%). A further 160 patients (31.7%) showed as yet unproven candidate variants. Pathogenic variants were found in 47 of 93 genes, and in more than 30%of cases, the phenotype was nonconventional, broadening the spectrum of disease presentation in at least 10 genes. Conclusions: Our large DNA study of patients with undiagnosed myopathy is an example of the ongoing revolution in molecular diagnostics, highlighting the advantages in using NGS as a first-tier approach for heterogeneous genetic conditions.
| Titolo: | The genetic basis of undiagnosed muscular dystrophies and myopathies | |
| Autori: | ||
| Data di pubblicazione: | 2016 | |
| Rivista: | ||
| Handle: | http://hdl.handle.net/11567/841162 | |
| Appare nelle tipologie: | 01.01 - Articolo su rivista |
File in questo prodotto:
| File | Descrizione | Tipologia | |
|---|---|---|---|
| The genetic basis od undiagnosed muscular dystrophies and myopathies Neurology 2016.pdf | Documento in versione editoriale | Administrator Richiedi una copia |
Copyright © 2021